Table 3. Identified pathogenic variants in genes other than FH causative genes.

Identified LDL-altering variants in APOE and ABCG8
Gene	Variant names		Predicted effect at the protein level				Reference
	DNA level	Protein level	M-CAP	PolyPhen-2	SIFT	Mutation Taster
APOE	c.784G＞ A	p.Glu262Lys	0.649	0.973	0.079	Disease causing	(28)
	c.787G＞ A	p.Glu263Lys	0.541	1.000	0.051	Disease causing
ABCG8	c.55G＞ C	p.Asp19His	n/a	0.769	0.045	Polymorphism	(12)
ABCG8	c.1256T＞ A	p.Ile419Asn	0.097	0.975	0.084	Disease causing	(12)
Identified HDL-altering variants in ABCA1 and CETP
Gene	Variant names		Predicted effect at the protein level				Reference
	DNA level	Protein level	M-CAP	PolyPhen-2	SIFT	Mutation Taster
ABCA1	c.3121C＞ G	p.Leu1041Val	0.156	1.000	0.000	Disease causing	(29)
CETP	c.1376A＞ G	p.Asp459Gly	n/a	0.584	0.016	Disease causing	(30)

n/a: not available. APOE, apolipoprotein E; ABCG8, ATP-binding cassette sub-family G member 8; ABCA1, ATP-binding cassette transporter A1; CETP, cholesteryl ester transfer protein. The pathogenicity thresholds for each pathogenicity prediction software are as follows: M-CAP ＞ 0.025, PolyPhen-2 ＞ 0.8, and SIFT ＜0.05.